Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L353F
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DDX3X

NM_001356.5:p.L353F

Associated Papers

The Role of the RNA Helicase DDX3X in Medulloblastoma Progression.

Swarup A et al.

Biomolecules, 2024

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation.

Valentin-Vega YA et al.

Scientific Reports, 2016

Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

Epling LB et al.

Journal of Molecular Biology, 2015

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_9.xlsx › Tier1

Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.

Brown NP et al.

The Journal of Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."